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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DENND1C Gene

protein-coding   GIFtS: 43
GCID: GC19M006467

DENN/MADD domain containing 1C

(Previous names: family with sequence similarity 31, member C )
(Previous symbol: FAM31C)
  Search for DENND1C
in our new
 Human Malady Compendium 
Biological research products
for DENND1C
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
DENN/MADD Domain Containing 1C1 2     FLJ227571
FAM31C1 2 3     DENN Domain-Containing Protein 1C2
Family With Sequence Similarity 31, Member C1 2     Protein FAM31C3
Connecdenn 32 3     

External Ids:    HGNC: 262251   Entrez Gene: 799582   Ensembl: ENSG000002057447   OMIM: 6136345   UniProtKB: Q8IV533   

Export aliases for DENND1C gene to outside databases

Previous GC identifers: GC19M006419 GC19M006230


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DENND1C:
Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members
of the connecdenn family, such as DENND1C, function as guanine nucleotide exchange factors (GEFs) for the early
endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024).
Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 (PubMed
20154091)).(supplied by OMIM, Nov 2010)

UniProtKB/Swiss-Prot: DEN1C_HUMAN, Q8IV53
Function: Guanine nucleotide exchange factor (GEF) which may activate RAB8A, RAB13 and RAB35. Promotes the exchange of
GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011255.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DENND1C gene promoter:
         Sp1   Pax-6   AP-4   Tal-1beta   NF-E2 p45   E47   YY1   Zic1   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDENND1C promoter sequence
   Search SABiosciences Chromatin IP Primers for DENND1C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DENND1C


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

DENND1C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DENND1C gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M006467:  view genomic region     (about GC identifiers)

Start:
6,467,218 bp from pter      End:
6,482,568 bp from pter
Size:
15,351 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DEN1C_HUMAN, Q8IV53 (See protein sequence)
Recommended Name: DENN domain-containing protein 1C  
Size: 801 amino acids; 87065 Da
Subunit: Exhibits low nucleotide-independent RAB35-binding activity. Interacts with clathrin heavy chain/CLTC and with
AP2A2, but not with AP2B1
Subcellular location: Cytoplasm, cytosol (By similarity). Cytoplasmic vesicle, clathrin-coated vesicle (By similarity)
Sequence caution: Sequence=BAB15475.1; Type=Frameshift; Positions=788;
Secondary accessions: B4E051 D3PFD4 Q8NDB1 Q9H5Z2
Alternative splicing: 2 isoforms:  Q8IV53-1   Q8IV53-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DENND1C: NX_Q8IV53

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IV53

  • DENND1C Protein expression data from MOPED and PaxDb:    About this image 
    DENND1C Protein Expression
    REFSEQ proteins: NP_079174.2  
    ENSEMBL proteins: 
     ENSP00000370889   ENSP00000465675   ENSP00000437805   ENSP00000467008   ENSP00000466334  
     ENSP00000466583   ENSP00000466394  

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    Uscn Proteins for DENND1C

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IEA--
    GO:0030136clathrin-coated vesicle IEA--

    DENND1C for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for DENND1C


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    DENND1C for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR005113 uDENN_dom
     IPR005112 dDENN_dom
     IPR001194 DENN_dom

    Graphical View of Domain Structure for InterPro Entry Q8IV53

    ProtoNet protein and cluster: Q8IV53

    UniProtKB/Swiss-Prot: DEN1C_HUMAN, Q8IV53
    Similarity: Contains 1 dDENN domain
    Similarity: Contains 1 DENN domain
    Similarity: Contains 1 uDENN domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DEN1C_HUMAN, Q8IV53
    Function: Guanine nucleotide exchange factor (GEF) which may activate RAB8A, RAB13 and RAB35. Promotes the exchange of
    GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity ----
    GO:0017112Rab guanyl-nucleotide exchange factor activity IDA--
         
    DENND1C for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DENND1C:
     Large cells 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for DENND1C 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidDENND1C 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DENND1C


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DENND1C

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for DENND1C (ENSP000003708894) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DENND1C
    Search CenterWatch for drugs/clinical trials and news about DENND1C / DEN1C 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DENND1C gene: 
    NM_024898.2  

    Unigene Cluster for DENND1C:

    DENN/MADD domain containing 1C
    Hs.236449  [show with all ESTs]
    Unigene Representative Sequence: AL713770
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000590444 ENST00000381480(uc002mfb.3 uc002mfc.3 uc002mfd.3 uc002mfe.3 uc010xje.2)
    ENST00000590818 ENST00000590867 ENST00000543576 ENST00000591795 ENST00000588988
    ENST00000592543 ENST00000589491 ENST00000590173 ENST00000586046 ENST00000591030
    ENST00000590473 ENST00000588421

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate DENND1C:
    hsa-miR-516a-3p hsa-miR-516b*
    SwitchGear 3'UTR luciferase reporter plasmidDENND1C 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DENND1C (see all 7)
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    Clone
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    Additional cDNA sequence: 

    AK026410.1 AK055820.1 AK225623.1 AK303226.1 AK303509.1 AL713770.1 AL834293.1 BC033437.1 
    BX647304.1 

    13 DOTS entries:

    DT.92420956  DT.455753  DT.100776748  DT.97840598  DT.99966553  DT.121448523  DT.121448490  DT.121448552 
    DT.95174165  DT.100677014  DT.95174168  DT.95219297  DT.303758 

    24/89 AceView cDNA sequences (see all 89):

    AW024310 AK055820 BX647304 AI540133 CB047062 BQ710519 BC033437 BG744050 
    AL713770 AL834293 AA688049 BQ053864 AW024298 BP338858 AA806897 BE674790 
    BM923037 BE167657 AA845903 BI759616 AW105009 CD632334 BU899317 BV192541 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DENND1C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGAGCCAAGA
    DENND1C Expression
    About this image
    See DENND1C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DENND1C

    SOURCE GeneReport for Unigene cluster: Hs.236449
        SABiosciences Custom PCR Arrays for DENND1C

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DENND1C

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DENND1C gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dennd1c1 , 5 DENN/MADD domain containing 1C1, 5 75.84(n)1
    74.34(a)1
      17 (29.65 cM)5
    707851  NM_153551.11  NP_705779.11 
     570660565 
    lizard
    (Anolis carolinensis)
    Reptilia DENND1C6
    DENND1A6
    --
    56(a)
    14(a)
    1 ↔ 1
    possible ortholog
    2(76175082-76214174)
    GL344112.1(17882-67755)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-76b14.26
    si:dkey-76b14.2
    35(a)
    1 ↔ 1
    1(56734865-56760631)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG186596
    --
    21(a)
    possible ortholog
    2R(5010809-5019486)
    worm
    (Caenorhabditis elegans)
    Secernentea rme-46
    Receptor Mediated Endocytosis family member (rme-4...
    23(a)
    possible ortholog
    X(10373170-10377692)


    ENSEMBL Gene Tree for DENND1C (if available)
    TreeFam Gene Tree for DENND1C (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DENND1C gene
    ST52  DENND5A2  DENND2D2  DENND2A2  DENND32  DENND4A2  DENND4B2  DENND1B2  
    DENND1A2  DENND5B2  DENND4C2  DENND2C2  
    2 SIMAP similar genes for DENND1C using alignment to 7 protein entries:     DEN1C_HUMAN (see all proteins):
    DENND1B    DENND1A

    DENND1C for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DENND1C
    PGOHUM00000243228


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/385 NCBI SNPs in DENND1C are shown (see all 385    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1502417111,2
    C--6466726(+) ACTGCA/GGGTTG 3 -- int1 ut310--------
    rs3483631,2
    C,F,H--6466745(+) TACACC/TGCAGC 3 -- int1 ut3120Minor allele frequency- T:0.13MN NS EA NA WA CSA 2244
    rs1139053601,2
    C--6466757(+) GCCACC/TGAGAC 3 -- int1 ut312Minor allele frequency- T:0.07CSA WA 120
    rs1852323271,2
    --6467288(+) ACAAAC/TGCCGA 3 -- ut31 ds50010--------
    rs1458230061,2
    --6467374(+) AGGCTG/TCCCTT 3 -- ut31 ds50010--------
    rs2013184271,2
    --6467530(+) AAGCAC/TTTCTT 4 K syn1 ds50010--------
    rs739206761,2
    C--6467589(+) GCTGGT/GGGGTG 4 /T /P mis1 ds50012Minor allele frequency- G:0.09WA 120
    rs1418304321,2
    C--6467619(+) TCCTGG/TTTCCT 4 T P ds5001 mis10--------
    rs1149548051,2
    C,F--6467627(+) CCTCCC/TGTGGC 4 Q R mis1 ds50011Minor allele frequency- T:0.02WA 118
    rs1471157491,2
    C--6467644(+) TGAGCA/GCGCTC 4 R syn1 ds50010--------

    HapMap Linkage Disequilibrium report for DENND1C (6467218 - 6482568 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for DENND1C
         1 Indel: 45811

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    DENND1C for disorders           About MalaCards

    DENND1C for disorders           About GeneDecksing

    OMIM gene information: 613634    OMIM disorders: --


    Export disorders for DENND1C gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DENND1C gene integrated from 9 sources:
    (articles sorted by number of sources associating them with DENND1C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The connecdenn family: Rab35 guanine nucleotide exchange factors interfacing with the clathrin machinery. (PubMed id 20154091)1, 2 Marat A.L. and McPherson P.S. (2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    4. Connecdenn 3/DENND1C binds actin linking Rab35 activat ion to the actin cytoskeleton. (PubMed id 22072793)1 Marat A.L....McPherson P.S. (2012)
    5. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    6. Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. (PubMed id 20937701)2 Yoshimura S.... Barr F.A. (2010)
    7. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79958 HGNC: 26225 AceView: FAM31C Ensembl:ENSG00000205744 euGenes: HUgn79958
    ECgene: DENND1C H-InvDB: DENND1C

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DENND1C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DENND1C gene:
    Search GeneIP for patents involving DENND1C

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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